Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807376C>G , CM000669.2:g.148807376C>G | GRCh38 |
| NC_000007.13:g.148504468C>G , CM000669.1:g.148504468C>G | GRCh37 |
| NC_000007.12:g.148135401C>G | NCBI36 |
| NG_032043.1:g.81974G>C , LRG_531:g.81974G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1422G>C | ENSP00000507503.1:n.*1422G>C | |
| NM_001203247.1:c.*270G>C | NP_001190176.1:n.*270G>C | |
| NM_001203248.1:c.*270G>C | NP_001190177.1:n.*270G>C | |
| NM_001203249.1:c.*270G>C | NP_001190178.1:n.*270G>C | |
| NM_004456.4:c.*270G>C , LRG_531t1:c.*270G>C | NP_004447.2:n.*270G>C | |
| NM_152998.2:c.*270G>C | NP_694543.1:n.*270G>C | |
| XM_005249962.3:c.*270G>C | XP_005250019.1:n.*270G>C | |
| XM_005249963.3:c.*270G>C | XP_005250020.1:n.*270G>C | |
| XM_005249964.3:c.*270G>C | XP_005250021.1:n.*270G>C | |
| XM_011515883.1:c.*270G>C | XP_011514185.1:n.*270G>C | |
| XM_011515884.1:c.*270G>C | XP_011514186.1:n.*270G>C | |
| XM_011515885.1:c.*270G>C | XP_011514187.1:n.*270G>C | |
| XM_011515886.1:c.*270G>C | XP_011514188.1:n.*270G>C | |
| XM_011515887.1:c.*270G>C | XP_011514189.1:n.*270G>C | |
| XM_011515888.1:c.*270G>C | XP_011514190.1:n.*270G>C | |
| XM_011515889.1:c.*270G>C | XP_011514191.1:n.*270G>C | |
| XM_011515890.1:c.*270G>C | XP_011514192.1:n.*270G>C | |
| XM_011515891.1:c.*270G>C | XP_011514193.1:n.*270G>C | |
| XM_011515892.1:c.*270G>C | XP_011514194.1:n.*270G>C | |
| XM_011515893.1:c.*270G>C | XP_011514195.1:n.*270G>C | |
| XM_011515894.1:c.*270G>C | XP_011514196.1:n.*270G>C | |
| XM_011515895.1:c.*270G>C | XP_011514197.1:n.*270G>C | |
| XM_011515896.1:c.*270G>C | XP_011514198.1:n.*270G>C | |
| XM_011515897.1:c.*270G>C | XP_011514199.1:n.*270G>C | |
| XM_011515898.1:c.*270G>C | XP_011514200.1:n.*270G>C | |
| XR_928101.1:n.515+2291C>G | ||
| XR_928102.1:n.722+2291C>G | ||
| XR_002956413.1:n.5556G>C | ||
| XR_002956414.1:n.6016G>C |